Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease.

Autor:	Daniels AB; Division of Ocular Oncology and Pathology, Department of Ophthalmology and Visual Sciences, and Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, Tennessee. Electronic address: anthony.b.daniels@gmail.com., Chang EY; Retina and Vitreous of Texas, Houston, Texas., Chew EY; Division of Epidemiology and Clinical Applications, National Eye Institute, Bethesda, Maryland., Gombos DS; Section of Ophthalmology, Department of Head & Neck Surgery, Division of Surgery, University of Texas-MD Anderson Cancer Center, Houston, Texas., Gorin MB; Jules Stein Eye Institute, University of California-Los Angeles School of Medicine, Los Angeles, California., Shields CL; Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania., Wiley HE; National Eye Institute, Bethesda, Maryland.
Jazyk:	angličtina
Zdroj:	Ophthalmology [Ophthalmology] 2024 May; Vol. 131 (5), pp. 622-633. Date of Electronic Publication: 2023 Dec 12.
DOI:	10.1016/j.ophtha.2023.12.014
Abstrakt:	Purpose: To develop guidelines for ocular surveillance and early intervention for individuals with von Hippel-Lindau (VHL) disease. Design: Systematic review of the literature. Participants: Expert panel of retina specialists and ocular oncologists. Methods: A consortium of experts on clinical management of all-organ aspects of VHL disease was convened. Working groups with expertise in organ-specific features of VHL disease were tasked with development of evidence-based guidelines for each organ system. The ophthalmology subcommittee formulated questions for consideration and performed a systematic literature review. Evidence was graded for topic quality and relevance and the strength of each recommendation, and guideline recommendations were developed. Results: The quality of evidence was limited, and no controlled clinical trial data were available. Consensus guidelines included: (1) individuals with known or suspected VHL disease should undergo periodic ocular screening (evidence type, III; evidence strength, C; degree of consensus, 2A); (2) patients at risk of VHL disease, including first-degree relatives of patients with known VHL disease, or any patient with single or multifocal retinal hemangioblastomas (RHs), should undergo genetic testing for pathologic VHL disease gene variants as part of an appropriate medical evaluation (III/C/2A); (3) ocular screening should begin within 12 months after birth and continue throughout life (III/C/2A); (4) ocular screening should occur approximately every 6 to 12 months until 30 years of age and then at least yearly thereafter (III/C-D/2A); (5) ocular screening should be performed before a planned pregnancy and every 6 to 12 months during pregnancy (IV/D/2A); (6) ultra-widefield color fundus photography may be helpful in certain circumstances to monitor RHs, and ultra-widefield fluorescein angiography may be helpful in certain circumstances to detect small RHs (IV/D/2A); (7) patients should be managed, whenever possible, by those with subspecialty training, with experience with VHL disease or RHs, or with both and ideally within the context of a multidisciplinary center capable of providing multiorgan surveillance and access to genetic testing (IV/D/2A); (8) extramacular or extrapapillary RHs should be treated promptly (III/C/2A). Conclusions: Based on available evidence from observational studies, broad agreement was reached for a strategy of lifelong surveillance and early treatment for ocular VHL disease. These guidelines were endorsed by the VHL Alliance and the International Society of Ocular Oncology and were approved by the American Academy of Ophthalmology Board of Trustees. Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article. (Copyright © 2023 American Academy of Ophthalmology. All rights reserved.)
Databáze:	MEDLINE
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